Tay-Sachs
Tay-Sachs Disease Tay-Sachs is a rare fatal disorder that destroys nerve cells in the brain and spinal cord. Tay-Sachs usually starts showing symptoms in infants at the age of three to six months; however, there is also a rarer form of Tay-Sachs that starts showing symptoms in patient s that are in there twenties and early thirties. Patients with these disease have an insufficient activity of an enzyme called beta-hexosaminidase A that catalyzes the biodegradation of acidic fatty materials known as gangliosides. Gangliosides are made and biodegraded rapidly in early life as the brain develops. Harmful quantities of a fatty substance called ganglioside GM2 build up in tissues and nerve cells in the brain. This fatty substance distends the nerve cells causing a deterioration of mental and physical abilities. What are the symptoms of Tay-Sachs? Infants who have this disorder start to lose there motor skills. They are unable to turn over, sit and crawl, and start to have an exaggerated reaction to loud noises. They experience seizures, vision and hearing loss, intellectual disability, and paralysis. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Children with this severe infantile form of Tay-Sachs disease usually live only into early childhood. There are other forms of Tay-Sachs but they are very rare and can show symptoms later in life. Characteristic features include muscle weakness, loss of muscle coordination (ataxia) and other problems with movement, speech problems, and mental illness. These signs and sympto ms vary widely among people with late-onset forms of Tay-Sachs disease. What is the prognosis? Children with Tay-Sachs usually die by the age of four because of recuring infection. Is this disorder frequent? This disorder is more commonly seen in people of Jewish decent, French-Canadian communities of Quebec, the Old Order Amish community in Pennsylvania, and the Cajun population of Louisiana. This is because the genetic mutation that causes this disease is more common in these people. In the general population, however, it is very rare. How do people inherit Tay-Sachs? It is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Is there any treatment for this disorder? Currently there is no treatment for Tay-Sachs. Anticonvulsant medicine is used to control the seizures at first, and proper nutrition and hydration is advised to keep the airway open. Eventually, children may need a feeding tube. What other names are there for Tay-Sachs? *B variant GM2 gangliosidosis *GM2 gangliosidosis, type 1 *HexA deficiency *Hexosaminidase A deficiency *Hexosaminidase alpha-subunit deficiency (variant B) *Sphingolipidosis, Tay-Sachs *TSD Is there any research currently being done? Yes, the National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health (NIH), conducts research about Tay-Sachs disease in laboratories at the NIH and also supports additional research through grants to major medical institutions across the country.